Hypospadias in a Male Infant With the Adrenogenital Syndrome*

Blodgett, Frederick M.; Berki, Rezan H.; Herrmann, Walter

doi:10.1210/jcem-21-9-1087

Cited by 4 publications

(1 citation statement)

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“…Although he was originally reported as a case of 21-hydroxylase deficiency with salt-losing and hypospadias (23), the present studies clearly indicate an adrenal deficiency of the A5-3,3-HSD complex. After 3 wk off routine adrenal suppressive therapy, urinary A5-pregnenetriol, plasma DHA, and A5-androstenediol were grossly elevated, and corticoid excretion was low.…”

Section: Resultscontrasting

confidence: 46%

Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia.

Schneider¹,

Genel²,

Bongiovanni³

et al. 1975

J. Clin. Invest.

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A B S T R A C T A partial testicular defect in testosterone secretion has been documented in a pubertal male with a congenital adrenal hyperplasia due to hereditary deficiency of the A5-isomerase-3fi-hydroxysteroid dehydrogenase enzyme complex (AY-3j-HSD). Diagnosis of the enzymatic defect is based on the clinical picture of ambiguous genitalia and salt-losing crisis in infancy, together with high urinary A5-pregnenetriol and plasma dehydroepiandrosterone when the patient was taken off replacement corticoid treatment. No hormonal response to ACTH or salt deprivation was demonstrable. In addition, in vivo studies revealed a partial enzymatic defect in the testis. Although plasma testosterone was low-normal (250 ng/100 ml), plasma A5-androstenediol was markedly elevated and rose to a greater extent than testosterone after human chorionic gonadotropin administration. In vitro testicular incubation studies suggested a testicular A5-3%-HSD enzyme defect with less A4 products formed from A5 precursors than in a control testis. Histochemical studies of the testis were also consistent with this defect. Testicular biopsy revealed spermatoAn abstract of a portion of this work has appeared in Pediatr. Res.

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Section: Resultscontrasting

confidence: 46%